Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724745 | SCV000226551 | pathogenic | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000175119 | SCV000255659 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2012-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000175119 | SCV000766730 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile661*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs762471207, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 10330340, 25135358). ClinVar contains an entry for this variant (Variation ID: 194691). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000724745 | SCV002018083 | pathogenic | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003474927 | SCV004211498 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000175119 | SCV000790610 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-04-04 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000175119 | SCV001456366 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000724745 | SCV001797712 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000724745 | SCV001952084 | pathogenic | not provided | no assertion criteria provided | clinical testing |